Emerinopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy ⁵⁴

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to muscular dystrophy and rigid spine muscular dystrophy 1. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prophase. Related phenotype is muscle.

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Related Diseases for Emerinopathy

Diseases related to Emerinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy	29.4	EMD LMNA SUN2
2	rigid spine muscular dystrophy 1	10.1
3	reynolds syndrome	9.8	LMNA SUN2
4	cardiomyopathy, dilated, 1h	9.8	EMD LMNA
5	myopathy, proximal, and ophthalmoplegia	9.8	EMD LMNA
6	emery-dreifuss muscular dystrophy 1, x-linked	9.8	EMD LMNA
7	autosomal dominant limb-girdle muscular dystrophy	9.8	EMD LMNA
8	pelger-huet anomaly	9.8	EMD LMNA
9	cardiomyopathy, dilated, 1a	9.8	EMD LMNA
10	familial partial lipodystrophy	9.7	EMD LMNA
11	muscle tissue disease	9.7	EMD LMNA
12	muscular dystrophy, congenital, lmna-related	9.7	EMD LMNA
13	congenital fiber-type disproportion	9.7	EMD LMNA
14	neuromuscular disease	9.7	EMD LMNA
15	muscular disease	9.6	EMD LMNA
16	atrial standstill 1	9.6	EMD LMNA
17	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.5	EMD LMNA SUN2
18	emery-dreifuss muscular dystrophy	9.5	EMD LMNA SUN2
19	arrhythmogenic right ventricular cardiomyopathy	9.4	EMD LMNA
20	dilated cardiomyopathy	9.4	EMD LMNA SUN2

Graphical network of the top 20 diseases related to Emerinopathy:

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Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.8	EMD LMNA SUN2

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Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Obeservatory for PAtients With Laminopathies and Emerinopathies)	Recruiting	NCT03058185

Search NIH Clinical Center for Emerinopathy

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Genetic Tests for Emerinopathy

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Anatomical Context for Emerinopathy

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Publications for Emerinopathy

Articles related to Emerinopathy:

#	Title	Authors	Year
1	Muscle MRI in female carriers of emerinopathy. ( 24118169 )	Carboni N...Marrosu MG	2013
2	Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. ( 18646565 )	Astejada MN...Hayashi YK	2007
3	Presence of emerinopathy in cases of rigid spine syndrome. ( 9829281 )	Kubo S...Arahata K	1998

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Genes for Emerinopathy

Genes related to Emerinopathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EMD	Emerin	Protein Coding	17.15	GeneCards inferred via : Publications (show sections)
2	LMNA	Lamin A/C	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
3	SUN2	Sad1 And UNC84 Domain Containing 2	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)

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Variations for Emerinopathy

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Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

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Pathways for Emerinopathy

Pathways related to Emerinopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁷ Show member pathways Cell Cycle ⁶⁷ M Phase ⁶⁷	12.49	EMD LMNA SUN2
2	Mitotic Prophase ⁶⁷ Show member pathways Gene Silencing by RNA ⁶⁷ Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁷ MASTL Facilitates Mitotic Progression ⁶⁷ Small interfering RNA (siRNA) biogenesis ⁶⁷ Transcriptional regulation by small RNAs ⁶⁷	12.03	EMD LMNA
3	Cytoskeletal Signaling ⁴	11.86	EMD LMNA
4	Meiosis ⁶⁷ Show member pathways Meiotic recombination ⁶⁷ Meiotic synapsis ⁶⁷	11.79	LMNA SUN2
5	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁸ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁵	11.66	EMD LMNA
6	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.2	EMD LMNA
7	Initiation of Nuclear Envelope Reformation ⁶⁷ Show member pathways Clearance of Nuclear Envelope Membranes from Chromatin ⁶⁷ Nuclear Envelope Reassembly ⁶⁷	10.14	EMD LMNA

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GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear inner membrane	GO:0005637	9.16	EMD SUN2
2	nuclear membrane	GO:0031965	9.13	EMD LMNA SUN2
3	nuclear envelope	GO:0005635	8.8	EMD LMNA SUN2

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear envelope organization	GO:0006998	8.96	LMNA SUN2
2	mitotic nuclear envelope reassembly	GO:0007084	8.62	EMD LMNA

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Sources for Emerinopathy

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³⁴ ICD10

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³⁷ IUPHAR

³⁸ KEGG

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⁴⁰ LncRNADisease

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia